IUGR and IGF abnormalities

Gene: ANKRD11

Green List (high evidence)

ANKRD11 (ankyrin repeat domain 11)
EnsemblGeneIds (GRCh38): ENSG00000167522
EnsemblGeneIds (GRCh37): ENSG00000167522
OMIM: 611192, Gene2Phenotype
ANKRD11 is in 4 panels

3 reviews

Peter Clayton (University of Manchester)

Green List (high evidence)

Philip Murray (University of Manchester)

Green List (high evidence)

Rebecca Foulger (Genomics England curator)

Comment on phenotypes: KBG syndrome is characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability
17 Aug 2017, 9:54 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • KBG syndrome
  • 148050
OMIM
611192
Clinvar variants
Variants in ANKRD11
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Aug 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for ANKRD11 were set to KBG syndrome;148050

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Oct 2015, Gel status: 0

Created

Philip Murray (University of Manchester)

ANKRD11 was created by PhilMurray

23 Oct 2015, Gel status: 0

Added New Source

Philip Murray (University of Manchester)

ANKRD11 was added to IUGR and IGF abnormalitiespanel. Sources: Literature